Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
KCNJ1 | A214V | Bartter syndrome | Medium | 9 | 8841184, 9580661, 22441188 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.
KCNJ2 | KPKKRNETLVFSHNAVIAMRDGKLCLMWRV>G<NLRKSHLVEAHVRAQLLKSRITSEGEYIPL | 245 |
KCNJ1 | RPKKRAKTITFSKNAVISKRGGKLCLLIRV>A<NLRKSLLIGSHIYGKLLKTTVTPEGETIIL | 244 |
KCNJ3 | QPKKRAETLMFSEHAVISMRDGKLTLMFRV>G<NLRNSHMVSAQIRCKLLKSRQTPEGEFLPL | 246 |
KCNJ4 | RPKKRAQTLLFSHHAVISVRDGKLCLMWRV>G<NLRKSHIVEAHVRAQLIKPYMTQEGEYLPL | 237 |
KCNJ5 | QPKKRAETLMFSNNAVISMRDEKLCLMFRV>G<DLRNSHIVEASIRAKLIKSRQTKEGEFIPL | 252 |
KCNJ6 | QPKKRAETLVFSTHAVISMRDGKLCLMFRV>G<DLRNSHIVEASIRAKLIKSKQTSEGEFIPL | 255 |
KCNJ8 | QAHRRAETLIFSRHAVIAVRNGKLCFMFRV>G<DLRKSMIISASVRIQVVKKTTTPEGEVVPI | 243 |
KCNJ9 | QPNKRAATLVFSSHAVVSLRDGRLCLMFRV>G<DLRSSHIVEASIRAKLIRSRQTLEGEFIPL | 223 |
KCNJ10 | RPKKRAETIRFSQHAVVASHNGKPCLMIRV>A<NMRKSLLIGCQVTGKLLQTHQTKEGENIRL | 231 |
KCNJ11 | QAHRRAETLIFSKHAVIALRHGRLCFMLRV>G<DLRKSMIISATIHMQVVRKTTSPEGEVVPL | 233 |
KCNJ12 | RPKKRAQTLLFSHNAVVALRDGKLCLMWRV>G<NLRKSHIVEAHVRAQLIKPRVTEEGEYIPL | 246 |
KCNJ13 | RPKNRAFSIRFTDTAVVAHMDGKPNLIFQV>A<NTRPSPLTSVRVSAVLYQERENGK----L- | 217 |
KCNJ14 | KPKKRNETLVFSENAVVALRDHRLCLMWRV>G<NLRRSHLVEAHVRAQLLQPRVTPEGEYIPL | 250 |
KCNJ15 | RPKKRAETIKFSHCAVITKQNGKLCLVIQV>A<NMRKSLLIQCQLSGKLLQTHVTKEGERILL | 230 |
KCNJ16 | TARKRAQTIRFSYFALIGMRDGKLCLMWRI>G<DFRPNHVVEGTVRAQLLRYTEDSEGRM-TM | 233 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G215D | c.644G>A | Inherited Arrhythmia | LQTS | rs199473383 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol. 2003 35(4):409-15. 12689820 | ||
Inherited Arrhythmia | LQTS | Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872 | |||
Inherited Arrhythmia | LQTS | Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay. Ann Clin Lab Sci. 2016 46(1):110-3. 26927354 |